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rs587778874

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778874(G;T)
Make rs587778874(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position31801766
GenePAX6
is asnp
is mentioned by
dbSNPrs587778874
ebirs587778874
HLIrs587778874
Exacrs587778874
Varsomers587778874
Maprs587778874
PheGenIrs587778874
hapmaprs587778874
1000 genomesrs587778874
hgdprs587778874
ensemblrs587778874
gopubmedrs587778874
geneviewrs587778874
scholarrs587778874
googlers587778874
pharmgkbrs587778874
gwascentralrs587778874
openSNPrs587778874
23andMers587778874
23andMe allrs587778874
SNP Nexus

SNPshotrs587778874
SNPdbers587778874
MSV3drs587778874
GWAS Ctlgrs587778874
Max Magnitude0
ClinVar
Risk rs587778874(T;T)
Alt rs587778874(T;T)
Reference rs587778874(G;G)
Significance Pathogenic
Disease Irido-corneo-trabecular dysgenesis
Variation info
Gene PAX6
CLNDBN Irido-corneo-trabecular dysgenesis
Reversed 1
HGVS NC_000011.9:g.31823314C>A
CLNSRC
CLNACC RCV000059340.2,